Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations

Genetics in Medicine

Volumn 13, Issue 11, 2011, Pages 978-981

  Aldahmesh, Mohammed A ^a   Khan, Arif O ^a,b   Mohamed, Jawahir ^a   Alkuraya, Fowzan S ^a,c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

^d KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

BFSP2; homozygosity; intermediate fibers; juvenile cataract; PITX3; recessive mutations; sclerocornea

Indexed keywords

ADULT; ALLELE; ANTERIOR EYE SEGMENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BFSP 2 GENE; CATARACT; CHILD; CLINICAL ARTICLE; CONSANGUINITY; CORNEA DISEASE; DISEASE SEVERITY; EYE MALFORMATION; FEMALE; GENE; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; MICROPHTHALMIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PITX 3 GENE; RECESSIVE MUTATION;

BASE SEQUENCE; CATARACT; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MICROPHTHALMOS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 81155161043     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31822623d5     Document Type: Article

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